Linked Data
ClinVar Variation Id:
510494
ClinVar RCV Id:
RCV000608535
dbSNP Id:
rs1553603568
gnomAD v4:
2-219421492-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219421492C>G , CM000664.2:g.219421492C>G | GRCh38 |
| NC_000002.11:g.220286214C>G , CM000664.1:g.220286214C>G | GRCh37 |
| NC_000002.10:g.219994458C>G | NCBI36 |
| NG_008043.1:g.8116C>G , LRG_380:g.8116C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000477226.6:n.650C>G | ||
| ENST00000683013.1:n.564C>G | ||
| ENST00000373960.4:c.1176C>G MANE Select | ENSP00000363071.3:p.Leu392= | |
| ENST00000373960.3:c.1176C>G | ENSP00000363071.3:p.Leu392= | |
| ENST00000477226.5:n.648C>G | ||
| ENST00000492726.1:n.571C>G | ||
| NM_001927.3:c.1176C>G , LRG_380t1:c.1176C>G | NP_001918.3:p.Leu392= | |
| NM_001927.4:c.1176C>G MANE Select | NP_001918.3:p.Leu392= | |
| NM_001382708.1:c.1173C>G | NP_001369637.1:p.Leu391= | |
| NM_001382709.1:c.744C>G | NP_001369638.1:p.Leu248= | |
| NM_001382710.1:c.1107C>G | NP_001369639.1:p.Leu369= | |
| NM_001382711.1:c.1155C>G | NP_001369640.1:p.Leu385= | |
| NM_001382712.1:c.1176C>G | NP_001369641.1:p.Leu392= | |
| NM_001382713.1:c.906C>G | NP_001369642.1:p.Leu302= |